Biology:PUS1
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.[1][2]
PUS1 converts uridine into pseudouridine after the nucleotide has been incorporated into RNA. Pseudouridine may have a functional role in tRNAs and may assist in the peptidyl transfer reaction of rRNAs.[supplied by OMIM].[2] The mutations in PUS1 gene has been linked to mitochondrial myopathy and sideroblastic anemia.[3][4]
See also
- Pseudouridine kinase
- Mitochondrial tRNA pseudouridine27/28 synthase
- TRNA pseudouridine38/39 synthase
- TRNA pseudouridine32 synthase
References
- ↑ "Cloning and characterization of a mammalian pseudouridine synthase". RNA 5 (3): 409–19. March 1999. doi:10.1017/S1355838299981591. PMID 10094309.
- ↑ 2.0 2.1 "Entrez Gene: PUS1 pseudouridylate synthase 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80324.
- ↑ "Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)". BMJ Case Reports 2009: bcr0520091889. 2009. doi:10.1136/bcr.05.2009.1889. PMID 21686963.
- ↑ "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)". American Journal of Human Genetics 74 (6): 1303–8. June 2004. doi:10.1086/421530. PMID 15108122.
Further reading
- "Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)". American Journal of Human Genetics 74 (6): 1303–8. June 2004. doi:10.1086/421530. PMID 15108122.
- "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proceedings of the National Academy of Sciences of the United States of America 101 (44): 15724–9. November 2004. doi:10.1073/pnas.0404089101. PMID 15498874. Bibcode: 2004PNAS..10115724W.
- "Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation". The Journal of Biological Chemistry 280 (20): 19823–8. May 2005. doi:10.1074/jbc.M500216200. PMID 15772074.
- "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology 24 (10): 1285–92. October 2006. doi:10.1038/nbt1240. PMID 16964243.
- "Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)". Journal of Medical Genetics 44 (3): 173–80. March 2007. doi:10.1136/jmg.2006.045252. PMID 17056637.
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. November 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
 |  |
